BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability and who was considered during several years as having a non-progressive encephalopathy...

Background: Meningeal melanocytoma is considered a rare lesion arising from leptomeningeal melanocytes. Nearly two thirds of meningeal melanocytomas were reported in the intracranial compartment and the remaining one third in the spine. Spinal melanocytomas can be extradural or intradural, with extradural variant being more common, and the majority of cases have been single reports. Methods: A 5-year-old male presented with a 4-month history of non-radiating low back pain persistent at rest, with otherwise non-remarkable medical history...

BACKGROUND: Neonatal deaths are often associated with the complex decision to limit or withdraw life-sustaining interventions (LSIs) rather than therapeutic impasses. Despite the existence of a law, significant disparities in clinical procedures remain. This study aimed to assess deaths occurring in a Neonatal Intensive Care Unit (NICU) and measure the impact of a traceable Limitation or Withdrawal of Active Treatment (LWAT) file on the treatment of these newborns. METHODS: In this monocentric retrospective study, we reviewed all consecutive neonatal deaths occurring during two three-year periods among patients in the NICU at the North Hospital of Marseille: cohort 1 (from 2009 to 2011 without the LWAT file) and cohort 2 (from 2013 to 2015 after introduction of the LWAT file)...

The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a patient with excellent weight-height recovery and, even more surprisingly, neurological and psychomotor development in response to use of growth hormone...

Ketogenic diets (KD) were initially introduced to clinical practice as alimentary approaches with the aim to control drug-resistant epilepsies. Therapy control, particularly at initiation, happens through regular blood analysis and control of urine ketone levels. However, there is a lack of fast, reliable and preferably non-invasive methods of analysis. The exhaled breath contains hundreds of volatile organic compounds (VOCs), which can be modified by diet. The instrumental development of VOC detection converges in the direction of low cost sensors, which can facilitate the self-monitoring of the patients in the future if reliable breath markers are available...

OBJECTIVE: To identify a hypertensive clinical form of atropine or anticholinergic toxidrome secondary to accidental consumption of Datura seeds. PATIENTS AND METHODS: We report two cases of Datura intoxication in two children who presented marked anticholinergic syndrome whose diagnosis was made by the anamnesis and the clinic. RESULT: Patient 1: A 5-year-old boy, returns home agitated with balance disorders. He was admitted to pediatric resuscitation unit...

BACKGROUND: Respiratory syncytial virus (RSV) is the most common viral cause of pediatric bronchiolitis and pneumonia worldwide. Risk factors for high mortality and prolonged morbidity after RSV infection include premature birth, bronchopulmonary dysplasia, congenital heart disease, and Down syndrome. However, some previously healthy, full-term children who are infected with RSV also require hospitalization and even experience severe sequelae or death. CASE PRESENTATION: In this report, we present the case of an RSV-associated death of a child who was born at full-term and developed normally up to the age of 2 years old...

Development of normal feeding is a highly complex sensorimotor process that depends upon the integration of neurological maturation, internal motivation and experiential learning (1-3). Disruption of the child's feeding process can lead to feeding problems during infancy and early childhood. One of the most widely used and validated scales for measuring whether a child's feeding problem has clinical significance is the Behavioral Pediatric Feeding Assessment Scale (BPFAS) (4). The objective of this study was to translate the BPFAS into Greek and culturally adapt the scale to evaluate the psychometric properties among the Greek parents of normally developing children...

Encephalopathy is an important complication associated with influenza, most frequently observed in young children, with a wide range of severity. The most severe category of influenza-associated encephalopathy (IAE) is acute necrotizing encephalopathy (ANE), characterized by high frequency of neurologic sequelae and fatal outcomes. We report two young siblings who developed fever and seizures with altered mental status. Influenza A(H1N1)pdm09 virus infection was identified in upper respiratory tract specimens from both patients, and neuroimaging revealed bilateral inflammatory lesions, consistent with acute necrotizing encephalopathy...

Penetrating injuries of the carotid and vertebral arteries are rare, but life-threatening conditions. There are still challenges in the first intervention management and patient treatment. Deciding which methods to apply in the first intervention, whether to perform imaging, and the preferred appropriate treatment for the patient (open surgery or endovascular intervention) plays a main role in the patient's survival without neurological deficit. The general management of trauma in penetrating neck injuries and the knowledge of special approaches to carotid artery injury are important for pediatric trauma centers...

OBJECTIVE: Investigate neurodevelopmental outcomes at 3 years corrected age in infants with a birth weight ≤1250 g born to single parents. STUDY DESIGN: Infants born between 1995 and 2010 with a birth weight ≤1250 g were considered eligible. Primary outcome was neurodevelopmental impairment; considered present if a child had any of the following: cerebral palsy, cognitive delay, visual impairment, or deafness/neurosensory hearing impairment. Univariate and multivariate analyses were performed...

Over the last decade, there have been significant advances in the identification, characterization, and treatment of autoimmune neurologic disorders in children. Many of these diseases include a typical movement disorder that can be a powerful aid to diagnosis. Frequently, movement disorders in autoimmune conditions are the sole or among a few presenting symptoms, allowing for earlier diagnosis of an underlying malignancy or systemic autoimmune disease. Given that early detection and treatment with immunotherapy may confer improved outcomes, recognizing these patterns of abnormal movements is essential for child neurologists...

Tremor is a fairly common movement disorder presenting to an outpatient pediatric neurology practice. Tremors can be primary or secondary to underlying neurologic or systemic diseases. When assessing a child with tremor, it is paramount to evaluate the phenomenology of the tremor, determine the presence or absence of other neurologic signs and symptoms, and the possible modifying influence of medications. Proper classification is essential for specific diagnosis and prompt adequate management. Treatment considerations should take into account objective assessment of tremor severity and the degree of disability or impairment experienced by the child...

Tics are the most common movement disorder in childhood and are a frequent reason for referral to child neurology clinics. The purpose of this review is to examine the phenomenology of tics, discuss what is known regarding their genetic and pathophysiological causes and to evaluate current treatment options. The evidence for the evaluation and treatment of the controversial diagnosis of pediatric autoimmune neuropsychiatric disorders associated with group A streptococci (PANDAS) will also be reviewed. With improved understanding of tic disorders, their etiology and response to current treatment options, we may be able to more effectively diagnose them and identify novel treatment strategies...

INTRODUCTION: The aim of this study is to evaluate long-term neurodevelopmental and respiratory outcome after fetal therapy for fetal pleural effusion, congenital cystic adenomatoid malformation, and bronchopulmonary sequestration. METHODS: Children ≥18 months of age underwent an assessment of neurologic, motor, and cognitive development. Medical records were reviewed to determine respiratory outcome. Behavioral outcome was assessed using the Child Behavioral Checklist...

This paper reviews research suggesting that the prevention of intergenerational poverty will be enhanced if we add evidence-based family and school prevention programs to existing efforts to reduce poverty in order to address the adverse social environments that often accompany poverty. Government policies such as the Earned Income Tax Credit can reduce family poverty, but simply improving the economic stability of the family will not necessarily prevent the development of child and adolescent problems such as academic failure, antisocial behavior, drug abuse, and depression, all of which can undermine future economic wellbeing...

BACKGROUND: Hypertrophic pachymeningitis (HP) is a rare disorder characterized by diffuse thickening of the dura mater with resultant neurologic deficits. HP develops secondary to various conditions or idiopathically usually in adults but rarely in children. CASE REPORT: We describe a 3-year-old female child with idiopathic HP. Her HP involved the entire central nervous system with progression into the brainstem. The lesion responded poorly to pulsed steroids or any immunosuppressants...

PURPOSE: Recurrent meningitis in children is a rare condition. However, its early recognition is important in order to prevent serious complications. This study aims to review cases of recurrent meningitis in children. METHODS: This is a retrospective study that included children diagnosed with recurrent meningitis and who were followed at child neurology clinic at the Jordan University Hospital from January 2001 to June 2017. RESULTS: Thirteen patients were included (nine males and four females)...

BACKGROUND: Lead and mercury are freely transferred across the placenta, while cadmium tends to accumulate in the placenta. Each contributes to adverse neurological outcomes for the child. Although prenatal heavy metal exposure has been linked with an array of neurodevelopmental outcomes in childhood, its association with the development of motor skills in children has not been robustly studied. AIMS/OBJECTIVE: The aim of the present study was to investigate the association between prenatal exposure to lead, cadmium and mercury, measured as maternal blood concentrations during pregnancy, and motor skills, measured as subtests of the Movement Assessment Battery for Children (Movement ABC) at age 7 years in a large sample of mother-child pairs enrolled in a UK observational birth cohort study (Avon Longitudinal Study of Parents and Children, ALSPAC)...